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Overcoming the barriers to diagnosis of Morquio A syndrome

2014; BioMed Central; Volume: 9; Issue: 1 Linguagem: Inglês

10.1186/s13023-014-0192-7

1750-1172

Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, Michael Fietz, Antony Fu, Dong‐Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Anita Inwood, Hsiang‐Yu Lin, Jim McGill, Nancy J. Mendelsohn, Torayuki Okuyama, Hasri Samion, Adeline Tan, Akemi Tanaka, Verasak Thamkunanon, Teck‐Hock Toh, Albert D. Yang, Shuan‐Pei Lin,

Glycogen Storage Diseases and Myoclonus

Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome.Eighteen patients (77% female) had a mean (median; min, max) age of 77.1 (42.0; 0.0, 540.0) months at symptom onset, 78.9 (42.0; 4.5, 540.0) months at presentation and 113.8 (60.0; 7.0, 540.0) months at diagnosis. Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. Delayed diagnoses were due to atypical symptoms for 5 patients (28%), while 4 patients (22%) experienced each of subtle symptoms, symptoms commonly associated with other diseases, or false-negative urine glycosaminoglycan analysis. Two patients (11%) each experienced overgrowth within the first year of life. Two patients with Morquio A syndrome (11%) were diagnosed with craniosynostosis and 1 (6%) for each of Legg-Calvé-Perthes disease, Leri-Weill syndrome, and pseudoachondroplasia. Early radiographic features of Morquio A syndrome led to more efficient diagnosis.Increased awareness of clinical symptomology overlapping with Morquio A syndrome is essential. Clinicians encountering patients with certain skeletal dysplasia should consider Morquio A syndrome in their differential diagnosis. Atypical or subtle symptoms should not eliminate Morquio A syndrome from the differential diagnosis, especially for patients who may have non-classical phenotype of Morquio A syndrome.